AIMC Topic: Mutation

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Massively parallel genetic perturbation suggests the energetic structure of an amyloid-β transition state.

Science advances
Amyloid aggregates are pathological hallmarks of many human diseases, but how soluble proteins nucleate to form amyloids is poorly understood. Here, we use combinatorial mutagenesis, a kinetic selection assay, and machine learning to massively pertur...

MFDSMC: Accurate Identification of Cancer-Driver Synonymous Mutations Using Multiperspective Feature Representation Learning.

Journal of chemical information and modeling
Synonymous mutations do not change amino acid sequences, but they can drive cancer by influencing splicing, mRNA structure, translation efficiency, and other molecular mechanisms. Although driver synonymous mutations are significantly outnumbered by ...

A radiogenomics study on F-FDG PET/CT in endometrial cancer by a novel deep learning segmentation algorithm.

BMC cancer
OBJECTIVE: To create an automated PET/CT segmentation method and radiomics model to forecast Mismatch repair (MMR) and TP53 gene expression in endometrial cancer patients, and to examine the effect of gene expression variability on image texture feat...

Designing diverse and high-performance proteins with a large language model in the loop.

PLoS computational biology
We present a protein engineering approach to directed evolution with machine learning that integrates a new semi-supervised neural network fitness prediction model, Seq2Fitness, and an innovative optimization algorithm, biphasic annealing for diverse...

Shining Light on DNA Mutations through Machine Learning-Augmented Vibrational Spectroscopy.

Analytical chemistry
A method to directly predict the number of nucleic acid bases in a single-stranded DNA (ssDNA) or a genomic DNA has been proposed with a combination of Raman spectroscopy and an Artificial Neural Network (ANN) algorithm. In this work, the algorithm w...

GNNMutation: a heterogeneous graph-based framework for cancer detection.

BMC bioinformatics
BACKGROUND: When genes are translated into proteins, mutations in the gene sequence can lead to changes in protein structure and function as well as in the interactions between proteins. These changes can disrupt cell function and contribute to the d...

Prediction of Lymph Node Metastasis in Non-Small Cell Lung Carcinoma Using Primary Tumor Somatic Mutation Data.

JCO clinical cancer informatics
PURPOSE: Lymph node metastasis (LNM) significantly affects prognosis and treatment strategies in non-small cell lung cancer (NSCLC). Current diagnostic methods, including imaging and histopathology, have limited sensitivity and specificity. This stud...

The Role of PANoptosis-Related Genes in Predicting Breast Cancer Survival and Immune Prospect.

BioMed research international
The function of PANoptosis in breast cancer (BC) remains indistinct. We constructed a nomogram model to predict the prognosis of BC to identify high-risk patients and help them receive more accurate treatment. We used Cox regression and least absol...

Rapid diagnosis of TERT promoter mutation using Terahertz absorption spectroscopy in glioblastoma.

Scientific reports
Glioblastoma (GBM) is a highly aggressive brain tumor with poor outcomes and limited treatment options. The telomerase reverse transcriptase (TERT) promoter mutation, one of the key biomarkers in GBM, is linked to tumor progression and prognosis. Thi...

Metabolic profiles in laryngeal cancer defined two distinct molecular subtypes with divergent prognoses.

Frontiers in immunology
BACKGROUND: Laryngeal cancer (LCA) is the second most common type of head and neck malignancy, characterized by high recurrence rates and poor overall survival (OS). However, progress in curing LCA through molecular-targeted diagnostics and therapies...